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rs80357554

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;C) 6 BRCA1 variant considered pathogenic for breast cancer
(C;C) 0 common in clinvar


Make rs80357554(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093457
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357554
ebirs80357554
HLIrs80357554
Exacrs80357554
Varsomers80357554
Maprs80357554
PheGenIrs80357554
hapmaprs80357554
1000 genomesrs80357554
hgdprs80357554
ensemblrs80357554
gopubmedrs80357554
geneviewrs80357554
scholarrs80357554
googlers80357554
pharmgkbrs80357554
gwascentralrs80357554
openSNPrs80357554
23andMers80357554
23andMe allrs80357554
SNP Nexus

SNPshotrs80357554
SNPdbers80357554
MSV3drs80357554
GWAS Ctlgrs80357554
Max Magnitude6
rs80357554, also known as 2193delC, c.2074_2074delC and p.His692Metfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357554(;)
Alt rs80357554(;)
Reference rs80357554(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245474delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047700.2, RCV000111757.2,